4cdo | pdb_00004cdo
From Proteopedia
Crystal structure of PQBP1 bound to spliceosomal U5-15kD
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Structural highlights
Disease[PQBP1_HUMAN] X-linked intellectual deficit, Sutherland-Haan type;X-linked intellectual deficit, Golabi-Ito-Hall type;X-linked intellectual deficit, Porteous type;Hamel cerebro-palato-cardiac syndrome. The disease is caused by mutations affecting the gene represented in this entry. Function[PQBP1_HUMAN] May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit.[1] [2] [3] [TXN4A_HUMAN] Essential role in pre-mRNA splicing. See AlsoReferences
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This page was last modified 17:40, 7 September 2022.